Anatomy Commons^™

Variables Affecting Neurodevelopmental Outcome In Infants With Critical Congenital Heart Disease, Elizabeth Loughman, Julie Weiner Do, Marcie Files Md

Research Days

Background: The mortality of cardiac conditions in infancy is improving with advances in surgical planning and medical management. Neurologic morbidity remains significant. Clinically correlating an infant with their neurologic exam, MRI/EEG, and subsequent developmental testing remains a challenge. Counseling regarding neurologic outcomes after cardiac intervention is difficult due to the wide range of findings that can sometimes be clinically irrelevant.

Purpose: The goal of this study is to identify factors associated with poor neurodevelopmental outcomes in infants with critical congenital heart defects (CCHD) as assessed by the Bayley Scales of Infant and Toddler Development Edition IV (Bayley).

Methods: This is …

A Case Of Heterotaxy And Common Atrioventricular Canal With Bradycardia, Mohamed Aashiq Abdul Ghayum, Jenna Schermerhorn, Hayley S. Hancock, Kelsey Brattrud, Melanie Kathol, Maria Kiaffas

Research Days

Background

Heterotaxy-polysplenia syndrome (otherwise known as left atrial isomerism) should be suspected in the presence of complete atrioventricular canal defect (CAVC) with interruption of the inferior vena cava (IVC), atrioventricular block (AVB), and viscero-cardiac heterotaxy. The prognosis remains dismal for the fetus with such entity, especially in the presence of major structural heart disease and high-grade atrioventricular block. Early diagnosis, close follow up, and appropriate delivery planning, allows for effective stabilization of the baby after birth and might improve survival.

Methods

A 26-year-old mother at 26 weeks gestational age was referred for cardiac evaluation of cardiomegaly, suspected CAVC and bradycardia. …

Comparing Bilateral And Unilateral Metal Stabilizers: Incision Complications In Pectus Repair, Seth Saylors, Shawn D. St Peter, Tolulope A. Oyetunji Md Mph, Nelimar Cruz-Centeno, Nitin Nadella

Research Days

Introduction: The use of metal stabilizers in minimally invasive pectus excavatum repair (MIPER) has been previously associated with multiple postoperative complications. We aimed to identify if bilateral metal stabilizers increase the risk of incision complications when compared to unilateral stabilizers.

Methods: Institutional Review Board approval was obtained. Patients that underwent MIPER with metal stabilizers from 2019 to 2022 and currently had the bar in place, at a single tertiary care pediatric center, were included. A telephone survey evaluated if they had incision-associated symptoms, and if the location was congruent with the stabilizer site. A retrospective chart review was performed to …

Health Disparities In Slipped Capital Femoral Epiphysis (Scfe) Presentation, Rithika Ginjupalli, George Thomas, Rohit Siddabattula, Richard M. Schwend, Caleb Grote

Research Days

This study identifies various health disparities in SCFE presentations using neighborhood-level determinants COI and ICE in addition to sociodemographic determinants such as race and gender.

Congenital Heart Defects And Autism: Associated Risk Factors, Amanda R. Strasser, Amanda N. Manderfeld, Paul C. Glasier, Elizabeth J. Willen

Research Days

Background: Children with Congenital Heart Disease (CHD) have higher odds of developing social difficulties and/or an Autism Spectrum Disorder (AuSD) than the general population. Most research to date has utilized a parent-reported diagnosis and/or parent-reported questionnaire data. The purpose of this study is to identify the prevalence of AuSD diagnosis and associated risk factors in a patient sample from a medium-size children’s hospital.

Working Hypotheses: The prevalence of AuSD and associated risk factors is greater in the CHD population.

Methods: Our population includes a clinically referred sample of children (i.e., medical history of CHD and neurodevelopmental risk) under 18 who …

Portable Low Field Strength Mri: Preliminary Experience In Neonates And Children, Johnston Fite

Research Days

Background: High field strength MRI (HF-MRI) is a pediatric imaging staple. However, HF-MRI access is limited by strong (1.5 – 3.0 T) magnetic fields with associated safety concerns, space requirements, and cost. To address these limitations, Hyperfine (Guilford, CT) developed a low magnetic field (0.064 T) portable MRI device, named Swoop. Preliminary data in adults shows benefits despite decreased image quality. In this study, initial evaluation of Swoop’s image quality in pediatric patients was assessed.

Objectives/Goal: The objective in this study was the initial evaluation of Swoop’s image quality in pediatric patients to serve as a baseline.

Methods/Design: The study …

Bleeding Disorder Referrals To Hematology Clinic: A Single Institution Experience, Zuri Hudson

Research Days

Background: Our center receives hundreds of referrals yearly for bleeding disorder evaluation both due to bleeding symptoms and secondary to routine preoperative laboratory testing. The evaluation for a bleeding disorder can be challenging due to the wide variability of symptoms as well as the need for accurately interpreting lab results. Bhasin et al showed that 4% of patients referred to hematology based on a preoperative coagulation evaluation had a clinically relevant bleeding disorder. Currently there is little published about the referral patterns to pediatric hematology and the outcomes of these referrals.

Objectives/Goal: To characterize our hematology referrals for bleeding disorder …

Prenatal Diagnosis Of An Uncommon Form Of A Hypoplastic Left Heart Syndrome Variant., Anmol Goyal

Research Days

Background: Mitral valve dysplasia syndrome (MVDS) is a rare form of congenital heart disease, similar to hypoplastic left heart syndrome (HLHS). Prenatal identification is important for counseling, delivery planning and postnatal management.

Case: A 39 year-old woman underwent fetal echocardiography at ~34 weeks gestation for evaluation of fetal cardiomegaly and hydrops revealing: biatrial enlargement, mild-to-moderate mitral and tricuspid valve insufficiency, echobright mitral valve apparatus, biventricular dilation, severe LV fibroelastosis (EFE) and systolic dysfunction, mild hypoplasia of aortic valve annulus and aortic arch, and a thick restrictive atrial septum (RAS) with left to right flow (Fig 1a-c).

Decision‐making: Although critical aortic …

Incidental Diagnosis Of Dual Arterial Supply Of The Right Lower Lobe, Christopher Mathis

Research Days

No abstract provided.

Angiopoietin 1 Protects Against Lps-Induced Acute Lung Injury And Alveolar Remodeling In Neonatal Mice, Umar Salimi

Research Days

No abstract provided.

Anal Fistulotomy (Seton Placement), James M. Nottingham, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

An anal fistula (anorectal fistula) is one of the most common colorectal issues in the U.S. An anal or anorectal fistula is an inflammatory tract or connection between the anal canal and the perianal skin. Classic anal fistulas are the result of a perineal infection and abscess formation. These infections arise from the anal glands, which form a cryptoglandular abscess at the dentate line and then communicate outward to the perianal skin. The abscess or infections can spontaneously drain externally or be drained by a surgical incision and drainage procedure. After the drainage, a chronic tract can form that will …

Text Messaging For Disease Monitoring In Childhood Nephrotic Syndrome., Chia-Shi Wang, Jonathan P. Troost, Larry A. Greenbaum, Tarak Srivastava, Kimberly Reidy, Keisha Gibson, Howard Trachtman, John D. Piette, Christine B. Sethna, Kevin Meyers, Katherine M. Dell, Cheryl L. Tran, Suzanne Vento, Krishna Kallem, Emily Herreshoff, Sangeeta Hingorani, Kevin Lemley, Gia Oh, Elizabeth Brown, Jen-Jar Lin, Frederick Kaskel, Debbie S. Gipson

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: There is limited information on effective disease monitoring for prompt interventions in childhood nephrotic syndrome. We examined the feasibility and effectiveness of a novel text messaging system (SMS) for disease monitoring in a multicenter, prospective study.

Methods: A total of 127 patientsresults, symptoms, and medication adherence were sent to a designated caregiver (n = 116) or adolescent patient (n = 3). Participants responded by texting. Feasibility of SMS was assessed by SMS adoption, retention, and engagement, and concordance between participant-reported results and laboratory/clinician assessments. The number of disease relapses and time-to-remission data captured by SMS were compared …

Outcomes Following Dynamic Compression Bracing For Pectus Carinatum, Charlene Dekonenko, Robert M. Dorman, Amy L. Pierce, Beth A. Orrick, David Juang, Pablo Aguayo, Jason D. Fraser, Tolulope A. Oyetunji, Charles L. Snyder, Shawn D. St Peter, G W. Holcomb Iii

Posters

We describe our experience with dynamic compression bracing for pectus carinatum patients and their satisfaction with bracing.

Health-Related Quality Of Life In Glomerular Disease., Pietro A. Canetta, Jonathan P. Troost, Shannon Mahoney, Amy J. Kogon, Noelle Carlozzi, Sharon M. Bartosh, Yi Cai, T Keefe Davis, Hilda Fernandez, Alessia Fornoni, Rasheed A. Gbadegesin, Emily Herreshoff, John D. Mahan, Patrick H. Nachman, David T. Selewski, Christine B. Sethna, Tarak Srivastava, Katherine R. Tuttle, Chia-Shi Wang, Ronald J. Falk, Ali G. Gharavi, Brenda W. Gillespie, Larry A. Greenbaum, Lawrence B. Holzman, Matthias Kretzler, Bruce M. Robinson, William E. Smoyer, Lisa M. Guay-Woodford, Bryce Reeve, Debbie S. Gipson, Curegn Consortium

Manuscripts, Articles, Book Chapters and Other Papers

There is scant literature describing the effect of glomerular disease on health-related quality of life (HRQOL). The Cure Glomerulonephropathy study (CureGN) is an international longitudinal cohort study of children and adults with four primary glomerular diseases (minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, and IgA nephropathy). HRQOL is systematically assessed using items from the Patient-Reported Outcomes Measurement Informative System (PROMIS). We assessed the relationship between HRQOL and demographic and clinical variables in 478 children and 1115 adults at the time of enrollment into CureGN. Domains measured by PROMIS items included global assessments of health, mobility, anxiety, fatigue, and sleep …

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …

Innocent Heart Murmur., Arpan R. Doshi

Manuscripts, Articles, Book Chapters and Other Papers

Heart murmur is the most common reason for a referral to a pediatric cardiologist. Virtually all children have a heart murmur during their childhood. Less than 1% of murmurs are pathological in children. Innocent/functional heart murmur is the most common type of heart murmur. There are multiple theories proposed to identify etiology of innocent heart murmur with varying consensus, but everybody agrees that innocent heart murmur does not carry any morbidity or mortality risk. Even today, heart murmur is associated with high physician uncertainty and parental anxiety. Extensive cardiac evaluation for such a benign finding is also associated with high …

Coarctation Of Aorta In Children., Arpan R. Doshi, Sathish Chikkabyrappa

Manuscripts, Articles, Book Chapters and Other Papers

Coarctation of aorta (CoA) is a discrete narrowing in aorta causing obstruction to the flow of blood. It accounts for 6-8% of all congenital heart diseases. With advances in fetal echocardiography rate of prenatal diagnosis of coarctation of aorta has improved but it still remains a challenging diagnosis to make prenatally. Transthoracic echocardiography is mainstay of making initial diagnosis and routine follow-up. Cardiac magnetic resonance imaging (MRI) and computed tomography (CT) are great advanced imaging tools for two-dimensional and three-dimensional imaging of aortic arch in complex cases. Based on type of coarctation, size of patient, severity of lesion, and associated …

A Multicenter Study To Evaluate Pulmonary Function In Osteogenesis Imperfecta., Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey Krischer, Mary Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Members Of The Brittle Bone Disorders Consortium, Eric T. Rush, Sandesh C S Nagamani

Manuscripts, Articles, Book Chapters and Other Papers

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV₁ ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV₁ which do not follow the expected trends of the …

Functional Brain Activation Changes Associated With Practice In Delaying Smoking Among Moderate To Heavy Smokers: Study Protocol And Rationale Of A Randomized Trial (Cope)., Andrew T. Fox, Delwyn Catley, Kimber P. Richter, Edward F. Ellerbeck, Morgan G. Brucks, Vlad B. Papa, Laura E. Martin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Most smokers struggle to overcome tobacco addiction. Neuroscientific models of addiction emphasize the importance of brain regions associated with cognitive control and reward to understand the cycle of addiction and relapse. During an attempt at abstinence, the cognitive control system appears to be underpowered to override the heightened reward system of the addicted brain. Thus, one neural target for treatment is to strengthen the cognitive control system. It may be possible to improve the functioning of the cognitive control system via deliberate practice.

METHODS/DESIGN: This study will determine the effects of practicing delaying smoking on brain and behavioral measures …

One-Day Oral Polyethylene Glycol Based Cleanout Is Effective For Pre-Colonoscopy Preparation In Children., Ashwath S. Kumar, Brooke L. Beutler, Thomas M. Attard

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The adequacy of pre-procedure preparation is the principal determinant of the quality of colonoscopy in pediatric as in adult patients. There is a lack of consensus, among providers on a standard pre-procedure regimen. Professional society guidelines include the use of Polyethylene glycol (PEG). Herein we report on the provider-assessed adequacy of a one day, age-categorized dosing, PEG based cleanout regimen in children undergoing colonoscopy in a tertiary institution.

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METHODS: The standard bowel preparation regime at our institution includes an age dependent minimum PEG dosing regimen in addition to clear liquids the day prior to the procedure. We retrospectively …

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava

Manuscripts, Articles, Book Chapters and Other Papers

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian "Deterministic Approximation of Posteriors" (DAP) to fine-map …

Longitudinal Measures Of Deformation Are Associated With A Composite Measure Of Contractility Derived From Pressure-Volume Loop Analysis In Children., Shahryar M. Chowdhury, Ryan J. Butts, Carolyn L. Taylor, Varsha M. Bandisode, Karen S. Chessa, Anthony M. Hlavacek, Arni Nutting, Girish S. Shirali, G Hamilton Baker

Manuscripts, Articles, Book Chapters and Other Papers

Aims: The relationship between echocardiographic measures of left ventricular (LV) systolic function and reference-standard measures have not been assessed in children. The objective of this study was to assess the validity of echocardiographic indices of LV systolic function via direct comparison to a novel composite measure of contractility derived from pressure-volume loop (PVL) analysis.

Methods and results: Children with normal loading conditions undergoing routine left heart catheterization were prospectively enrolled. PVLs were obtained via conductance catheters. A composite invasive composite contractility index (ICCI) was developed using data reduction strategies to combine four measures of contractility derived from PVL analysis. Echocardiograms …

Hla-Dqa1 And Apol1 As Risk Loci For Childhood-Onset Steroid-Sensitive And Steroid-Resistant Nephrotic Syndrome., Adebowale Adeyemo, Christopher Esezobor, Adaobi Solarin, Asiri Abeyagunawardena, Jameela A. Kari, Sherif El Desoky, Larry A. Greenbaum, Margret Kamel, Mahmoud Kallash, Cynthia Silva, Alex Young, Tracey E. Hunley, Nilka De Jesus-Gonzalez, Tarak Srivastava, Rasheed Gbadegesin

Manuscripts, Articles, Book Chapters and Other Papers

Background: Few data exist for the genetic variants underlying the risk for steroid-sensitive nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-DQA1 and APOL1 variants as risk factors for SSNS in African American children and use classic HLA antigen types and amino acid inference to refine the HLA-DQA1 association.

Study design: Case-control study.

Setting & participants: African American children with SSNS or steroid-resistant nephrotic syndrome (SRNS) were enrolled from Duke University and centers participating in the Midwest Pediatric Nephrology Consortium.

Factor: Genetic variants in HLA-DQA1 (C34Y [rs1129740]; F41S [rs1071630]) and APOL1 high-risk alleles.

Outcomes: SSNS …

Echocardiographic Detection Of Increased Ventricular Diastolic Stiffness In Pediatric Heart Transplant Recipients: A Pilot Study., Shahryar M. Chowdhury, Ryan J. Butts, Anthony M. Hlavacek, Carolyn L. Taylor, Karen S. Chessa, Varsha M. Bandisode, Girish S. Shirali, Arni Nutting, G Hamilton Baker

Manuscripts, Articles, Book Chapters and Other Papers

Background: Pediatric heart transplant recipients are at risk for increased left ventricular (LV) diastolic stiffness. However, the noninvasive evaluation of LV stiffness has remained elusive in this population. The objective of this study was to compare novel echocardiographic measures of LV diastolic stiffness versus gold-standard measures derived from pressure-volume loop (PVL) analysis in pediatric heart transplant recipients.

Methods: Patients undergoing left heart catheterization were prospectively enrolled. PVLs were obtained via conductance. The end-diastolic pressure-volume relationship was obtained via balloon occlusion. The stiffness constant, β, was calculated. Echocardiographic measures of diastolic function were derived from spectral and tissue Doppler and two-dimensional …

Increasing The Use Of Waveform Capnography In Neonatal And Pediatric Patients, Sherry Mccool, Lisa Pruitt, Olivia Kaullen

Posters

No abstract provided.

Effect Of Hemiepiphysiodesis On The Growth Plate: The Histopathological Changes And Mechanism Exploration Of Recurrence In Mini Pig Model., Jing Ding, Jin He, Zhi-Qiang Zhang, Zhen-Kai Wu, Fang-Chun Jin

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Hemiepiphysiodesis has been widely used to correct angular deformity of long bone in immature patients. However, there is a limited knowledge about the biomechanical effect of this technique on the histopathological changes of the growth plate and the mechanism of recurrence of malformation after implant removal. We aimed to evaluate the biomechanical effect of hemiepiphysiodesis on the histopathological changes of the growth plate and the mechanism of recurrence of malformation after implant removal in Bama miniature pigs, and to explore the role of asymmetric stress during this procedure.

Methods: Eight 3-month-old male Bama miniature pigs sustained surgeries on the …

Mechanotransduction Signaling In Podocytes From Fluid Flow Shear Stress., Tarak Srivastava, Hongying Dai, Daniel P. Heruth, Uri S. Alon, Robert E. Garola, Jianping Zhou, R Scott Duncan, Ashraf El-Meanawy, Ellen T. Mccarthy, Ram Sharma, Mark L. Johnson, Virginia J. Savin, Mukut Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Recently, we and others have found that hyperfiltration-associated increase in biomechanical forces, namely, tensile stress and fluid flow shear stress (FFSS), can directly and distinctly alter podocyte structure and function. The ultrafiltrate flow over the major processes and cell body generates FFSS to podocytes. Our previous work suggests that the cyclooxygenase-2 (COX-2)-PGE2-PGE2 receptor 2 (EP2) axis plays an important role in mechanoperception of FFSS in podocytes. To address mechanotransduction of the perceived stimulus through EP2, cultured podocytes were exposed to FFSS (2 dyn/cm2) for 2 h. Total RNA from cells at the end of FFSS treatment, 2-h post-FFSS, and 24-h …

Hyperfiltration-Associated Biomechanical Forces In Glomerular Injury And Response: Potential Role For Eicosanoids., Mukut Sharma, Ram Sharma, Ellen T. Mccarthy, Virginia J. Savin, Tarak Srivastava

Manuscripts, Articles, Book Chapters and Other Papers

Hyperfiltration is a well-known risk factor in progressive loss of renal function in chronic kidney disease (CKD) secondary to various diseases. A reduced number of functional nephrons due to congenital or acquired cause(s) results in hyperfiltration in the remnant kidney. Hyperfiltration-associated increase in biomechanical forces, namely pressure-induced tensile stress and fluid flow-induced shear stress (FFSS) determine cellular injury and response. We believe the current treatment of CKD yields limited success because it largely attenuates pressure-induced tensile stress changes but not the effect of FFSS on podocytes. Studies on glomerular podocytes, tubular epithelial cells and bone osteocytes provide evidence for a …

Role Of Biomechanical Forces In Hyperfiltration-Mediated Glomerular Injury In Congenital Anomalies Of The Kidney And Urinary Tract., Tarak Srivastava, Ganesh Thiagarajan, Uri S. Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T. Mccarthy, Virginia J. Savin, Mukut Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear. We re-examine the phenomenon of hyperfiltration in the context of biomechanical forces with special reference to glomerular podocytes. Capillary stretch exerts tensile …

Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets.

METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy.

RESULTS: A total of 91,024 variants were identified. By filtering out 'normal variants' against those of the 1000 Genomes Project, we identified 12,741 remaining variants which are potentially associated with RES plus …